Longitudinal clinical, cognitive, and neuroanatomical changes over 5 years in GBA-positive Parkinson's disease patients

被引:25
|
作者
Leocadi, Michela [1 ,5 ]
Canu, Elisa [1 ]
Donzuso, Giulia [7 ]
Stojkovic, Tanja [6 ]
Basaia, Silvia [1 ]
Kresojevic, Nikola [6 ]
Stankovic, Iva [6 ]
Sarasso, Elisabetta [1 ]
Piramide, Noemi [1 ,5 ]
Tomic, Aleksandra [6 ]
Markovic, Vladana [6 ]
Petrovic, Igor [6 ]
Stefanova, Elka [6 ]
Kostic, Vladimir S. [6 ]
Filippi, Massimo [1 ,2 ,3 ,4 ,5 ]
Agosta, Federica [1 ,2 ,5 ]
机构
[1] IRCCS San Raffaele Sci Inst, Div Neurosci, Neuroimaging Res Unit, Via Olgettina 60, I-20132 Milan, Italy
[2] IRCCS San Raffaele Sci Inst, Neurol Unit, Via Olgettina 60, I-20132 Milan, Italy
[3] IRCCS San Raffaele Sci Inst, Neurophysiol Serv, Via Olgettina 60, I-20132 Milan, Italy
[4] IRCCS San Raffaele Sci Inst, Neurorehabil Unit, Via Olgettina 60, I-20132 Milan, Italy
[5] Univ Vita Salute San Raffaele, Via Olgettina 60, I-20132 Milan, Italy
[6] Univ Belgrade, Fac Med, Clin Neurol, Belgrade, Serbia
[7] Univ Catania, Dept GF Ingrassia, Sect Neurosci, Catania, Italy
关键词
Glucocerebrosidase gene; GBA; Parkinson's disease; Cortical thickness; Magnetic resonance imaging; GAUCHER-DISEASE; GLUCOCEREBROSIDASE MUTATIONS; QUESTIONNAIRE; PROGRESSION; DIAGNOSIS; DEMENTIA; SURVIVAL; CARRIERS; GENE; PD;
D O I
10.1007/s00415-021-10713-4
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective To study the longitudinal disease course of Parkinson's disease (PD) patients with glucocerebrosidase (GBA) mutation (GBA-positive) compared to PD non-carriers (GBA-negative) along a 5-year follow-up, evaluating changes in clinical and cognitive outcomes, cortical thickness, and gray-matter (GM) volumes. Methods Ten GBA-positive and 20 GBA-negative PD patients underwent clinical, neuropsychological, and MRI assessments (cortical thickness and subcortical, hippocampal, and amygdala volumes) at study entry and once a year for 5 years. At baseline and at the last visit, each group of patients was compared with 22 age-matched healthy controls. Clinical, cognitive, and MRI features were compared between groups at baseline and over time. Results At baseline, GBA-positive and GBA-negative PD patients had similar clinical and cognitive profiles. Compared to GBA-negative and controls, GBA-positive patients showed cortical thinning of left temporal, parietal, and occipital gyri. Over time, compared to GBA-negative, GBA-positive PD patients progressed significantly in motor and cognitive symptoms, and showed a greater pattern of cortical thinning of posterior regions, and frontal and orbito-frontal cortices. After 5 years, compared to controls, GBA-negative PD patients showed a pattern of cortical thinning similar to that showed by GBA-positive cases at baseline. The two groups of patients showed similar patterns of subcortical, hippocampal, and amygdala volume loss over time. Conclusions Compared to GBA-negative PD, GBA-positive patients experienced a more rapid motor and cognitive decline together with a greater, earlier and faster cortical thinning. Cortical thickness measures may be a useful tool for monitoring and predicting PD progression in accordance with the genetic background.
引用
收藏
页码:1485 / 1500
页数:16
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